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GWAS đơn bào×Nghiên cứu liên kết toàn bộ hệ gen (GWAS)×
Lĩnh vựcTin sinh họcTin sinh học
HọProcess / pipelineProcess / pipeline
Năm ra đời2019–2022 (rapid emergence with large-scale scRNA-seq atlases)2005–2007
Người khởi xướngMultiple groups (Price lab, De Jager lab, others); scDRS framework by Zhang et al. 2022Klein et al. (age-related macular degeneration GWAS, 2005); landmark scale: Wellcome Trust Case Control Consortium (2007)
LoạiIntegrative genomic analysis pipelineObservational genomic association study
Công trình gốcZhang, M. J., Hou, K., Dey, K. K., Sakaue, S., Jagadeesh, K. A., Weinand, K., ... & Price, A. L. (2022). Polygenic enrichment distinguishes disease associations of individual cells in single-cell RNA-seq data. Nature Genetics, 54(8), 1224-1234. link ↗Wellcome Trust Case Control Consortium. (2007). Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls. Nature, 447(7145), 661–678. link ↗
Tên gọi khácsc-GWAS, single-cell GWAS integration, cell-type-specific GWAS, single-cell genetic association analysisGWAS, genome-wide association analysis, whole-genome association study, WGAS
Liên quan66
Tóm tắtSingle-cell GWAS is an integrative bioinformatics pipeline that maps genome-wide association study (GWAS) signals onto single-cell transcriptomic landscapes to identify which cell types and individual cells carry disproportionate genetic risk for a disease or trait. By leveraging single-cell RNA-seq atlases alongside GWAS summary statistics, it moves beyond tissue-level associations to reveal the precise cellular contexts in which disease-associated genetic variants exert their effects.A genome-wide association study (GWAS) systematically tests hundreds of thousands to millions of single-nucleotide polymorphisms (SNPs) across the human genome for statistical association with a trait or disease. By comparing allele frequencies between cases and controls — or by regressing SNP genotypes on a quantitative phenotype — GWAS identifies genomic loci that harbor common genetic variants contributing to complex traits. Since its large-scale debut in 2007, GWAS has catalogued thousands of robust disease–variant associations across virtually every common human condition.
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ScholarGateSo sánh phương pháp: Single-cell GWAS · Genome-wide association study. Truy cập ngày 2026-06-19 từ https://scholargate.app/vi/compare